Incidental Mutation 'R8056:Slc8a1'
| ID |
619412 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc8a1
|
| Ensembl Gene |
ENSMUSG00000054640 |
| Gene Name |
solute carrier family 8 (sodium/calcium exchanger), member 1 |
| Synonyms |
Ncx1, D930008O12Rik |
| MMRRC Submission |
067493-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8056 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
81680534-82045806 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 81955352 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Glutamic Acid
at position 562
(G562E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132809
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086538]
[ENSMUST00000163123]
[ENSMUST00000163680]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086538
AA Change: G562E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000083725
Gene: ENSMUSG00000054640
AA Change: G562E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
|
Pfam:Na_Ca_ex
|
77 |
248 |
3.8e-38 |
PFAM |
|
Pfam:Na_Ca_ex_C
|
251 |
386 |
2e-53 |
PFAM |
|
Calx_beta
|
393 |
493 |
1.28e-49 |
SMART |
|
Calx_beta
|
524 |
624 |
8.25e-44 |
SMART |
|
low complexity region
|
754 |
765 |
N/A |
INTRINSIC |
|
Pfam:Na_Ca_ex
|
796 |
961 |
2.4e-29 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163123
AA Change: G562E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132809
Gene: ENSMUSG00000054640
AA Change: G562E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
|
Pfam:Na_Ca_ex
|
87 |
246 |
4.6e-38 |
PFAM |
|
coiled coil region
|
313 |
332 |
N/A |
INTRINSIC |
|
Calx_beta
|
393 |
493 |
1.28e-49 |
SMART |
|
Calx_beta
|
524 |
624 |
8.25e-44 |
SMART |
|
low complexity region
|
742 |
753 |
N/A |
INTRINSIC |
|
Pfam:Na_Ca_ex
|
794 |
947 |
1.2e-28 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163680
AA Change: G562E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126373
Gene: ENSMUSG00000054640
AA Change: G562E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
|
Pfam:Na_Ca_ex
|
77 |
248 |
3.8e-38 |
PFAM |
|
Pfam:Na_Ca_ex_C
|
251 |
386 |
2e-53 |
PFAM |
|
Calx_beta
|
393 |
493 |
1.28e-49 |
SMART |
|
Calx_beta
|
524 |
624 |
8.25e-44 |
SMART |
|
low complexity region
|
754 |
765 |
N/A |
INTRINSIC |
|
Pfam:Na_Ca_ex
|
796 |
961 |
2.4e-29 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (75/75) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] In cardiac myocytes, Ca(2+) concentrations alternate between high levels during contraction and low levels during relaxation. The increase in Ca(2+) concentration during contraction is primarily due to release of Ca(2+) from intracellular stores. However, some Ca(2+) also enters the cell through the sarcolemma (plasma membrane). During relaxation, Ca(2+) is sequestered within the intracellular stores. To prevent overloading of intracellular stores, the Ca(2+) that entered across the sarcolemma must be extruded from the cell. The Na(+)-Ca(2+) exchanger is the primary mechanism by which the Ca(2+) is extruded from the cell during relaxation. In the heart, the exchanger may play a key role in digitalis action. The exchanger is the dominant mechanism in returning the cardiac myocyte to its resting state following excitation.[supplied by OMIM, Apr 2004]
PHENOTYPE: Homozygotes for targeted null mutations have underdeveloped, nonbeating hearts with massive apoptosis of myocytes, a dilated pericardium and die around embryonic day 9.5. Heterozygotes exhibit altered responses to experimental cardiac pressure overload. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik2 |
T |
C |
11: 48,910,909 (GRCm39) |
E508G |
probably benign |
Het |
| Acsl3 |
C |
T |
1: 78,659,611 (GRCm39) |
L88F |
probably damaging |
Het |
| Adamtsl1 |
C |
T |
4: 86,260,269 (GRCm39) |
P835S |
possibly damaging |
Het |
| Agrn |
A |
G |
4: 156,254,868 (GRCm39) |
V1616A |
probably benign |
Het |
| Bmerb1 |
T |
A |
16: 13,856,180 (GRCm39) |
|
probably benign |
Het |
| Brca2 |
T |
C |
5: 150,492,771 (GRCm39) |
V3262A |
possibly damaging |
Het |
| Bsn |
T |
C |
9: 107,982,506 (GRCm39) |
D977G |
|
Het |
| Cic |
G |
T |
7: 24,990,366 (GRCm39) |
A1956S |
possibly damaging |
Het |
| Clip4 |
C |
A |
17: 72,110,587 (GRCm39) |
T189K |
probably damaging |
Het |
| Col12a1 |
T |
C |
9: 79,507,220 (GRCm39) |
E279G |
|
Het |
| Col24a1 |
A |
C |
3: 145,019,925 (GRCm39) |
I99L |
possibly damaging |
Het |
| Cpne3 |
A |
G |
4: 19,532,426 (GRCm39) |
V329A |
possibly damaging |
Het |
| Cyp17a1 |
T |
C |
19: 46,659,030 (GRCm39) |
I204V |
possibly damaging |
Het |
| Cyp2c66 |
A |
G |
19: 39,130,485 (GRCm39) |
I107V |
probably benign |
Het |
| Dennd4c |
A |
G |
4: 86,763,213 (GRCm39) |
R1840G |
probably null |
Het |
| Dhx36 |
A |
T |
3: 62,396,012 (GRCm39) |
L465Q |
possibly damaging |
Het |
| Edc4 |
A |
G |
8: 106,617,116 (GRCm39) |
|
probably benign |
Het |
| Efcab3 |
A |
G |
11: 104,799,896 (GRCm39) |
T2931A |
probably damaging |
Het |
| Fam133b |
A |
T |
5: 3,615,744 (GRCm39) |
R215S |
unknown |
Het |
| Fbh1 |
G |
A |
2: 11,748,441 (GRCm39) |
T985I |
probably benign |
Het |
| Fras1 |
A |
G |
5: 96,892,633 (GRCm39) |
D2911G |
probably damaging |
Het |
| Gm13889 |
A |
T |
2: 93,787,020 (GRCm39) |
D151E |
probably damaging |
Het |
| Gosr2 |
C |
A |
11: 103,588,530 (GRCm39) |
|
probably benign |
Het |
| Igkv8-26 |
T |
A |
6: 70,170,706 (GRCm39) |
L99H |
probably damaging |
Het |
| Inhca |
A |
G |
9: 103,143,423 (GRCm39) |
C438R |
probably damaging |
Het |
| Kif16b |
A |
G |
2: 142,554,762 (GRCm39) |
F679L |
probably damaging |
Het |
| Kif1a |
G |
C |
1: 92,982,423 (GRCm39) |
|
probably benign |
Het |
| Kif3b |
G |
C |
2: 153,171,979 (GRCm39) |
R716S |
possibly damaging |
Het |
| Lilra6 |
A |
T |
7: 3,915,551 (GRCm39) |
C395S |
probably damaging |
Het |
| Lrp5 |
A |
G |
19: 3,647,337 (GRCm39) |
F1302L |
probably damaging |
Het |
| Map2 |
T |
G |
1: 66,454,779 (GRCm39) |
V1223G |
probably damaging |
Het |
| Mical1 |
T |
A |
10: 41,357,168 (GRCm39) |
N324K |
probably damaging |
Het |
| Morc3 |
T |
A |
16: 93,642,064 (GRCm39) |
H94Q |
probably benign |
Het |
| Mpped1 |
T |
C |
15: 83,720,663 (GRCm39) |
V199A |
possibly damaging |
Het |
| Msx1 |
G |
A |
5: 37,981,544 (GRCm39) |
T45I |
probably benign |
Het |
| Myh7 |
G |
A |
14: 55,210,776 (GRCm39) |
Q1714* |
probably null |
Het |
| Narf |
T |
C |
11: 121,136,170 (GRCm39) |
V182A |
possibly damaging |
Het |
| Ncapd2 |
G |
A |
6: 125,148,006 (GRCm39) |
T1107M |
probably damaging |
Het |
| Nek3 |
A |
G |
8: 22,619,359 (GRCm39) |
|
probably null |
Het |
| Neurog1 |
G |
T |
13: 56,399,223 (GRCm39) |
P175T |
probably damaging |
Het |
| Nlrp9c |
T |
C |
7: 26,085,112 (GRCm39) |
T156A |
probably damaging |
Het |
| Or1ad1 |
T |
A |
11: 50,876,368 (GRCm39) |
V280E |
probably damaging |
Het |
| Or2a20 |
A |
T |
6: 43,193,978 (GRCm39) |
I44F |
probably damaging |
Het |
| Or6c3 |
G |
A |
10: 129,309,061 (GRCm39) |
A167T |
probably benign |
Het |
| Orm3 |
A |
G |
4: 63,277,594 (GRCm39) |
E194G |
probably benign |
Het |
| Pga5 |
A |
C |
19: 10,654,161 (GRCm39) |
|
probably benign |
Het |
| Pik3r2 |
G |
T |
8: 71,225,011 (GRCm39) |
P151T |
probably benign |
Het |
| Pkp2 |
T |
C |
16: 16,031,264 (GRCm39) |
C10R |
probably benign |
Het |
| Plxdc1 |
T |
A |
11: 97,869,343 (GRCm39) |
R82W |
probably damaging |
Het |
| Polr2c |
G |
A |
8: 95,586,895 (GRCm39) |
A54T |
probably benign |
Het |
| Rab31 |
T |
C |
17: 66,024,503 (GRCm39) |
I59V |
probably benign |
Het |
| Rasgrf2 |
T |
C |
13: 92,167,321 (GRCm39) |
M251V |
probably damaging |
Het |
| Rcc2 |
G |
A |
4: 140,429,586 (GRCm39) |
C40Y |
probably benign |
Het |
| Rfc1 |
A |
C |
5: 65,451,436 (GRCm39) |
|
probably benign |
Het |
| Rhag |
T |
C |
17: 41,139,679 (GRCm39) |
I137T |
probably damaging |
Het |
| Rnf216 |
T |
C |
5: 142,978,616 (GRCm39) |
M841V |
probably benign |
Het |
| Scaf11 |
C |
A |
15: 96,312,698 (GRCm39) |
E1448* |
probably null |
Het |
| Septin11 |
T |
C |
5: 93,315,435 (GRCm39) |
L388P |
unknown |
Het |
| Serpina1b |
A |
T |
12: 103,784,137 (GRCm39) |
|
probably benign |
Het |
| Skint10 |
A |
G |
4: 112,573,010 (GRCm39) |
I262T |
probably benign |
Het |
| Slc13a4 |
C |
T |
6: 35,245,887 (GRCm39) |
G586E |
probably damaging |
Het |
| Slc8b1 |
T |
A |
5: 120,658,682 (GRCm39) |
L126Q |
probably damaging |
Het |
| Smg1 |
A |
G |
7: 117,759,589 (GRCm39) |
Y2086H |
unknown |
Het |
| Spmip10 |
A |
G |
18: 56,727,763 (GRCm39) |
N79S |
|
Het |
| Taf1c |
A |
T |
8: 120,330,202 (GRCm39) |
D47E |
probably benign |
Het |
| Tbx5 |
A |
C |
5: 119,991,678 (GRCm39) |
M250L |
probably benign |
Het |
| Tekt3 |
T |
C |
11: 62,974,785 (GRCm39) |
|
probably null |
Het |
| Topors |
T |
C |
4: 40,262,221 (GRCm39) |
I354M |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,778,574 (GRCm39) |
G1309V |
unknown |
Het |
| Ttyh1 |
C |
T |
7: 4,127,622 (GRCm39) |
|
probably benign |
Het |
| Ubac1 |
A |
G |
2: 25,897,909 (GRCm39) |
I237T |
probably benign |
Het |
| Vmn1r197 |
T |
A |
13: 22,512,388 (GRCm39) |
V103D |
probably damaging |
Het |
| Zfp184 |
T |
C |
13: 22,143,008 (GRCm39) |
F238S |
probably damaging |
Het |
| Zfp445 |
A |
G |
9: 122,681,032 (GRCm39) |
F970L |
possibly damaging |
Het |
| Zfp90 |
A |
T |
8: 107,151,112 (GRCm39) |
E275V |
probably damaging |
Het |
| Zscan12 |
C |
G |
13: 21,553,492 (GRCm39) |
Q439E |
probably benign |
Het |
|
| Other mutations in Slc8a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00549:Slc8a1
|
APN |
17 |
81,956,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00572:Slc8a1
|
APN |
17 |
81,696,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00777:Slc8a1
|
APN |
17 |
81,956,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00857:Slc8a1
|
APN |
17 |
81,955,308 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01068:Slc8a1
|
APN |
17 |
81,696,371 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL01089:Slc8a1
|
APN |
17 |
81,696,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01089:Slc8a1
|
APN |
17 |
81,955,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01510:Slc8a1
|
APN |
17 |
81,955,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01677:Slc8a1
|
APN |
17 |
81,956,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01862:Slc8a1
|
APN |
17 |
81,749,630 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02003:Slc8a1
|
APN |
17 |
81,735,625 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02500:Slc8a1
|
APN |
17 |
81,696,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02556:Slc8a1
|
APN |
17 |
81,956,173 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL02800:Slc8a1
|
APN |
17 |
81,715,752 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03308:Slc8a1
|
APN |
17 |
81,749,624 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03391:Slc8a1
|
APN |
17 |
81,740,067 (GRCm39) |
splice site |
probably benign |
|
|
cardinal
|
UTSW |
17 |
81,955,836 (GRCm39) |
missense |
probably damaging |
0.99 |
|
encyclical
|
UTSW |
17 |
81,956,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4498001:Slc8a1
|
UTSW |
17 |
81,956,269 (GRCm39) |
nonsense |
probably null |
|
|
R0067:Slc8a1
|
UTSW |
17 |
81,745,188 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0067:Slc8a1
|
UTSW |
17 |
81,745,188 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0485:Slc8a1
|
UTSW |
17 |
81,955,422 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0667:Slc8a1
|
UTSW |
17 |
81,956,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0845:Slc8a1
|
UTSW |
17 |
81,745,177 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1073:Slc8a1
|
UTSW |
17 |
81,955,836 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1417:Slc8a1
|
UTSW |
17 |
81,715,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1510:Slc8a1
|
UTSW |
17 |
81,955,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1546:Slc8a1
|
UTSW |
17 |
81,955,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1625:Slc8a1
|
UTSW |
17 |
81,956,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1806:Slc8a1
|
UTSW |
17 |
81,955,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1879:Slc8a1
|
UTSW |
17 |
81,955,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2025:Slc8a1
|
UTSW |
17 |
81,956,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2187:Slc8a1
|
UTSW |
17 |
81,955,982 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R2198:Slc8a1
|
UTSW |
17 |
81,715,685 (GRCm39) |
nonsense |
probably null |
|
|
R3856:Slc8a1
|
UTSW |
17 |
81,955,803 (GRCm39) |
missense |
probably benign |
|
|
R4067:Slc8a1
|
UTSW |
17 |
81,955,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4224:Slc8a1
|
UTSW |
17 |
81,956,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4225:Slc8a1
|
UTSW |
17 |
81,956,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5028:Slc8a1
|
UTSW |
17 |
81,956,702 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5307:Slc8a1
|
UTSW |
17 |
81,956,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5766:Slc8a1
|
UTSW |
17 |
81,956,390 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5787:Slc8a1
|
UTSW |
17 |
81,696,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5902:Slc8a1
|
UTSW |
17 |
81,715,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5913:Slc8a1
|
UTSW |
17 |
81,955,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6017:Slc8a1
|
UTSW |
17 |
81,955,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6481:Slc8a1
|
UTSW |
17 |
81,696,347 (GRCm39) |
missense |
probably benign |
|
|
R6670:Slc8a1
|
UTSW |
17 |
81,956,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6714:Slc8a1
|
UTSW |
17 |
81,715,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6914:Slc8a1
|
UTSW |
17 |
81,715,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6919:Slc8a1
|
UTSW |
17 |
81,696,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6942:Slc8a1
|
UTSW |
17 |
81,715,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7057:Slc8a1
|
UTSW |
17 |
81,956,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7431:Slc8a1
|
UTSW |
17 |
81,749,092 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7447:Slc8a1
|
UTSW |
17 |
81,956,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7480:Slc8a1
|
UTSW |
17 |
81,956,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7572:Slc8a1
|
UTSW |
17 |
81,749,200 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8326:Slc8a1
|
UTSW |
17 |
81,715,535 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8782:Slc8a1
|
UTSW |
17 |
81,955,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8905:Slc8a1
|
UTSW |
17 |
81,749,084 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8987:Slc8a1
|
UTSW |
17 |
81,955,282 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9057:Slc8a1
|
UTSW |
17 |
81,955,479 (GRCm39) |
missense |
probably benign |
|
|
R9441:Slc8a1
|
UTSW |
17 |
81,956,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9616:Slc8a1
|
UTSW |
17 |
81,955,407 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9657:Slc8a1
|
UTSW |
17 |
81,955,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0024:Slc8a1
|
UTSW |
17 |
81,740,191 (GRCm39) |
missense |
probably benign |
0.11 |
|
Z1186:Slc8a1
|
UTSW |
17 |
81,955,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGTGGTTTCTTGAATTGCAC -3'
(R):5'- ATGGCATACTAGAATCCAATCACG -3'
Sequencing Primer
(F):5'- TTCTTGAATTGCACTTGTTAAAAGAG -3'
(R):5'- GAATCCAATCACGCTTCTTCAATTG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation